title: Copy number variants in pharmacogenetic genes.
abstract: Variation in drug efficacy and toxicity remains an important clinical concern. Presently, single nucleotide polymorphisms (SNPs) only explain a portion of this problem, even in situations where the pharmacological trait is clearly heritable. The Human CNV Project identified copy number variations (CNVs) across approximately 12% of the human genome, and these CNVs were considered causes of diseases. Although the contribution of CNVs to the pathogenesis of many common diseases is questionable, CNVs play a clear role in drug-related genes by altering drug metabolizing and drug response. In this review, we provide a comprehensive evaluation of the clinical relevance of CNVs to drug efficacy, toxicity, and disease prevalence in world populations, and discuss the implication of using CNVs as a diagnostic tool in clinical intervention.
authors.affiliation: UNC Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina, Genetic Medicine Building, 120 Mason Farm Rd, Chapel Hill, NC 27599-7360, USA.
authors.forename: Yijing
authors.initials: Y
authors.lastname: He
authors.forename: Janelle M
authors.initials: JM
authors.lastname: Hoskins
authors.forename: Howard L
authors.initials: HL
authors.lastname: McLeod
mesh_terms: D056915:DNA Copy Number Variations / Q000235:genetics*; D018628:Gene Dosage / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D010597:Pharmacogenetics; D044382:Population Groups / Q000235:genetics